Table 1:
Summary of Germline Alterations and Cancer History in Lynch Syndrome Cohort
| Case | Age | Germline Alteration | Type of Mutation | Family History | Other Cancer History |
|---|---|---|---|---|---|
| 1 | 46 | MSH6 c.3103C>T (p.R1035*) | Nonsense | (F, CC, 66), (M, BC, 73) (MGM, BC, 63), (MA, OC, 66) | None |
| 2 | 43 | PMS2 c.137G.T(p. Ser46IIe) | Missense | (PGM, UC, 73) | None |
| 3 | 36 | MSH6 c.3959_3962delCAAG (p. Ala1320Glufs*6) | Frameshift Deletion | (MGM, UC, 63) | None |
| 4 | 33 | MLH1 c.954delC (p. His318Glnfs*49) | Deletion | (F, CC, 58) (PA, OC, 41; CC, 62) | (UC,33) |
| 5 | 47 | PMS2 c.248T>G (p. Leu83*) | Nonsense | (MGM, BC, 74) | (BC,38) |
| 6 | 64 | MSH6 c.3984_3987dup (p. Leu1330Valfs*12) | Frameshift Deletion | (M, BC, 43), (D, BC, 35), (MA, BC 54, 65), (MA, UC, 63) | (BC, 46), (FGP with LGD, 66) |
| 7 | 59 | MSH6 c.3513+3514delTA (p. Asp117Glufs*5) | Frameshift Deletion | None | (UC, 58) |
| 8 | 38 | PMS2 exon 11-12 duplication | Rearrangement | (M, BC, 51) | None |
| 9 | 47 | MSH6 c.2906A>G (p. Tyr969Cys) | Missense | None | None |
| 10 | 63 | MSH2 c.484G>A (p. Gly162Arg) | Missense | (M, CC, 40), (MA, CC, 59), (S,CC,56), (D, SBC, 51) | (SBC, 56), (LC, 66), (RC, 73) |
| 11 | 74 | MSH2 c.942+3A>T | Missense | (F, CC, 71), (PGM, CC, 66) | (UC, 46), (UrC, 81) (DCIS, 75) |
| 12 | 56 | MSH6 c.3485_3487delCTG (p. Ala1162del) | Deletion | (M, UC, 63), (MA, CC, 70), (PGM, BC,63) | (UC, 53) |
| 13 | 42 | MLH1 c.1852-1854delAAG (p. Lys1852del3) | Deletion | (PA, CC, 49), (PA, OC, 50), (PA, UrC, 70) | None |
Abbreviations: F, father; M, mother; MGM, maternal grandmother; MA, maternal aunt; PA, paternal aunt; PGM, paternal grandmother; S, son; D, daughter, CC, colon cancer; BC, breast cancer; OC, ovarian cancer; UC, uterine cancer; FGP, fundic gland polyp; LGD, low grade dysplasia; SBC, small bowel cancer; UrC, urothelial cancer; LC, lung cancer; RC, rectal cancer; DCIS, ductal carcinoma in situ.